ClinVar Miner

Submissions for variant NM_000918.4(P4HB):c.430G>A (p.Ala144Thr)

gnomAD frequency: 0.00009  dbSNP: rs138621837
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
Invitae RCV001512301 SCV001719693 benign not provided 2023-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495787 SCV002796536 likely benign Cole-Carpenter syndrome 1 2022-03-10 criteria provided, single submitter clinical testing

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