ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.5044C>G (p.Leu1682Val)

gnomAD frequency: 0.02482  dbSNP: rs74814914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561726 SCV001784377 likely benign not provided 2024-03-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001561726 SCV002464067 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561726 SCV005215068 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980697 SCV004794066 benign HERC1-related disorder 2019-06-04 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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