ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=)

gnomAD frequency: 0.00116  dbSNP: rs146164995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242996 SCV000307165 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557379 SCV000656816 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001563057 SCV001785933 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000557379 SCV004178549 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001563057 SCV005258150 likely benign not provided criteria provided, single submitter not provided

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