ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1910A>C (p.Asn637Thr)

dbSNP: rs201561587
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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 RCV000925592 SCV001071135 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000925592 SCV001759357 benign not provided 2020-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551866 SCV004783068 benign SETD5-related disorder 2022-05-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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