ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4511T>C (p.Leu1504Ser)

gnomAD frequency: 0.00127  dbSNP: rs138106612
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972451 SCV001120164 benign not provided 2024-12-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972451 SCV005267791 benign not provided criteria provided, single submitter not provided
GeneDx RCV000972451 SCV005421790 uncertain significance not provided 2024-06-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004754663 SCV005352800 likely benign RP1-related disorder 2024-08-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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