ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1024C>T (p.Leu342=)

gnomAD frequency: 0.00001  dbSNP: rs761575712
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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 RCV001407303 SCV001609271 likely benign Nephronophthisis 2023-05-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707590 SCV005224744 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920887 SCV004730414 likely benign INVS-related disorder 2021-07-19 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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