ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.1386C>T (p.His462=) (rs183018622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951519 SCV001097924 benign X-linked chondrodysplasia punctata 1 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285401 SCV001471820 benign none provided 2020-01-16 criteria provided, single submitter clinical testing

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