ClinVar Miner

Submissions for variant NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp) (rs115859828)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859974 SCV000774486 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000652615 SCV000895584 uncertain significance Luscan-lumish syndrome 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000122023 SCV000086234 not provided not specified 2013-09-19 no assertion provided reference population

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