ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.195G>A (p.Pro65=)

gnomAD frequency: 0.01367  dbSNP: rs79524813
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081131 SCV000113039 benign not specified 2013-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081131 SCV000307281 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000532122 SCV000417056 likely benign Nemaline myopathy 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000081131 SCV000513909 benign not specified 2016-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000532122 SCV000640644 benign Nemaline myopathy 2 2025-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081131 SCV003922824 likely benign not specified 2023-03-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710489 SCV005256349 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000532122 SCV001459638 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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