ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.875del (p.Asp292fs)

dbSNP: rs1057517247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410756 SCV000486978 likely pathogenic Muscle eye brain disease 2016-09-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463805 SCV004205973 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2023-08-08 criteria provided, single submitter clinical testing

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