ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.576C>T (p.Val192=)

gnomAD frequency: 0.04112  dbSNP: rs2229335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243159 SCV000309529 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344600 SCV000408566 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557290 SCV000639503 benign Holoprosencephaly 4 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001711811 SCV001942905 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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