ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.6420G>A (p.Val2140=)

gnomAD frequency: 0.00080  dbSNP: rs373459995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880892 SCV001024017 benign not provided 2024-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930527 SCV004743255 likely benign HERC1-related disorder 2020-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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