ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1209+149A>T

gnomAD frequency: 0.70206  dbSNP: rs627070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537649 SCV001754576 benign Neu-Laxova syndrome 1 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537650 SCV001754577 benign PHGDH deficiency 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001647378 SCV001859962 benign not provided 2021-03-08 criteria provided, single submitter clinical testing

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