ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe)

gnomAD frequency: 0.00038  dbSNP: rs138401612
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537310 SCV000655715 likely benign Luscan-Lumish syndrome 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001644663 SCV001858847 benign not provided 2020-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000537310 SCV002553791 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024332 SCV004947441 likely benign Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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