ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)

gnomAD frequency: 0.00002  dbSNP: rs766874330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730559 SCV000723758 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730559 SCV000858306 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469696 SCV001673780 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2025-01-01 criteria provided, single submitter clinical testing

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