ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)

dbSNP: rs1057516986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409168 SCV000486547 likely pathogenic Muscle eye brain disease 2016-06-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567886 SCV005052396 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2024-02-27 criteria provided, single submitter clinical testing

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