ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1383C>T (p.Ser461=)

gnomAD frequency: 0.00001  dbSNP: rs775978754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001475133 SCV001679321 likely benign Glycogen storage disease, type V 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389876 SCV004132339 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PYGM: BP4, BP7

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