ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1355-6G>T

dbSNP: rs28364485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674618 SCV000799986 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674618 SCV002380834 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-03-23 criteria provided, single submitter clinical testing

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