ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.590C>T (p.Ala197Val)

gnomAD frequency: 0.00029  dbSNP: rs374950143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524972 SCV000655757 likely benign Luscan-Lumish syndrome 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001597172 SCV001830326 benign not provided 2021-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26338826)
Genome-Nilou Lab RCV000524972 SCV002553902 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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