ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)

gnomAD frequency: 0.00001  dbSNP: rs751707090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000696563 SCV000895583 uncertain significance Luscan-Lumish syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000696563 SCV001722740 benign Luscan-Lumish syndrome 2020-04-24 criteria provided, single submitter clinical testing

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