ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)

gnomAD frequency: 0.00003  dbSNP: rs375514450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729955 SCV000857658 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001506644 SCV001711572 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-07-16 criteria provided, single submitter clinical testing

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