ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met)

gnomAD frequency: 0.00374  dbSNP: rs115534913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000433569 SCV000510897 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000433569 SCV001032602 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000433569 SCV001777454 likely benign not provided 2022-08-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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