ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.420A>G (p.Pro140=)

gnomAD frequency: 0.13985  dbSNP: rs2229337
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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 RCV000253985 SCV000309526 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375922 SCV000408561 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001518250 SCV001726910 benign Holoprosencephaly 4 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001618427 SCV001846566 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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