ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)

gnomAD frequency: 0.00013  dbSNP: rs201637813
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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 RCV000819640 SCV000960311 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132101 SCV003811748 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830799 SCV002090252 uncertain significance Muscle eye brain disease 2020-02-21 no assertion criteria provided clinical testing

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