ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro)

gnomAD frequency: 0.26957  dbSNP: rs9350797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001611940 SCV001837891 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788622 SCV002029627 benign PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001611940 SCV002484785 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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