ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)

gnomAD frequency: 0.00001  dbSNP: rs780909370
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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 RCV001326669 SCV001517711 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499644 SCV002783463 uncertain significance Autosomal dominant Robinow syndrome 1; Autosomal dominant Robinow syndrome 2 2022-04-01 criteria provided, single submitter clinical testing

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