ClinVar Miner

Submissions for variant NM_002506.3(NGF):c.104C>T (p.Ala35Val)

gnomAD frequency: 0.36049  dbSNP: rs6330
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268865 SCV000347415 benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000268865 SCV001156807 benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2024-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000268865 SCV001728004 benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001618498 SCV001845215 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18763222, 22330829)
Genome-Nilou Lab RCV000268865 SCV004050741 benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618498 SCV005280480 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000268865 SCV000733938 benign Congenital sensory neuropathy with selective loss of small myelinated fibers no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699424 SCV001925917 benign not specified no assertion criteria provided clinical testing

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