ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) (rs565316605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973902 SCV001121691 likely benign Schimke immuno-osseous dysplasia 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000973902 SCV001453738 likely benign Schimke immuno-osseous dysplasia 2020-09-16 no assertion criteria provided clinical testing

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