ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.415-11del

dbSNP: rs140309981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261842 SCV000361485 likely benign Phytanic acid storage disease 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513243 SCV001720831 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513243 SCV001950864 benign not provided 2019-09-20 criteria provided, single submitter clinical testing

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