ClinVar Miner

Submissions for variant NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=)

dbSNP: rs2074957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001663350 SCV001873625 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788712 SCV002029941 benign Lethal congenital contracture syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001663350 SCV005307277 benign not provided criteria provided, single submitter not provided

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