ClinVar Miner

Submissions for variant NM_198075.4(LRRC56):c.371C>T (p.Ala124Val)

gnomAD frequency: 0.00344  dbSNP: rs61747447
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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 RCV002117843 SCV002406490 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002117843 SCV005324614 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895814 SCV004711152 likely benign LRRC56-related disorder 2019-03-20 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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