ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.804C>T (p.His268=)

gnomAD frequency: 0.00215  dbSNP: rs142492066
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926689 SCV001072252 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000926689 SCV004129621 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DCPS: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003970540 SCV004783009 likely benign DCPS-related disorder 2020-02-04 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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