ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4011A>G (p.Glu1337=)

gnomAD frequency: 0.00078  dbSNP: rs115927459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652632 SCV000774503 benign Luscan-Lumish syndrome 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001756102 SCV001985966 benign not provided 2021-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000652632 SCV002553592 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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