ClinVar Miner

Submissions for variant NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) (rs1058219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247971 SCV000303276 benign not specified criteria provided, single submitter clinical testing
OMIM RCV000678394 SCV000804464 benign Griscelli syndrome type 1 1997-07-01 no assertion criteria provided literature only

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