ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.1981C>T (p.Arg661Trp)

gnomAD frequency: 0.00029  dbSNP: rs201887033
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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 RCV005101801 SCV005815700 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003924700 SCV004747466 likely benign TRPV6-related disorder 2019-06-21 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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