ClinVar Miner

Submissions for variant NM_006262.4(PRPH):c.1083C>G (p.Leu361=)

gnomAD frequency: 0.01517  dbSNP: rs62636517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057156 SCV001804409 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000057156 SCV005213099 likely benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057156 SCV000088269 not provided not provided no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV003974943 SCV004789991 benign PRPH-related disorder 2019-02-21 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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