ClinVar Miner

Submissions for variant NM_001377275.1(PER3):c.2299C>T (p.Pro767Ser)

gnomAD frequency: 0.00001  dbSNP: rs556093537
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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 RCV000930639 SCV001076294 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392557 SCV006058052 uncertain significance Advanced sleep phase syndrome 3 2022-12-03 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003925799 SCV004746573 benign PER3-related disorder 2019-05-16 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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