ClinVar Miner

Submissions for variant NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)

gnomAD frequency: 0.00362  dbSNP: rs35378785
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955536 SCV001102247 benign not provided 2024-10-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000709894 SCV001283128 uncertain significance Hypotrichosis 6 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GenomeConnect, ClinGen RCV000709894 SCV000840235 not provided Hypotrichosis 6 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003928177 SCV004744575 benign DSG4-related disorder 2019-07-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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