ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.229T>C (p.Leu77=)

dbSNP: rs2054402218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001399419 SCV001601209 likely benign Glycogen storage disease IXd 2020-09-09 criteria provided, single submitter clinical testing

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