ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.5604G>A (p.Val1868=)

gnomAD frequency: 0.00222  dbSNP: rs147841363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972475 SCV001120188 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972475 SCV001249325 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DCHS1: BP4, BP7
GeneDx RCV000972475 SCV001786488 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000972475 SCV001920357 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000972475 SCV001971979 likely benign not provided no assertion criteria provided clinical testing

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