ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.999+9C>T

dbSNP: rs183026465
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883283 SCV001026577 likely benign Glycogen storage disease, type V 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883283 SCV001452662 uncertain significance Glycogen storage disease, type V 2020-01-24 no assertion criteria provided clinical testing

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