ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1209+19C>T

gnomAD frequency: 0.00026  dbSNP: rs367917607
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125073 SCV002404519 benign PHGDH deficiency 2025-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715608 SCV005281085 benign not provided criteria provided, single submitter not provided

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