ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn)

gnomAD frequency: 0.00002  dbSNP: rs917194053
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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 RCV000648206 SCV000770020 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133444 SCV003811721 uncertain significance not provided 2020-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275752 SCV001461202 uncertain significance Muscle eye brain disease 2020-09-16 no assertion criteria provided clinical testing

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