ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)

gnomAD frequency: 0.00010  dbSNP: rs121909068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007396 SCV001606952 likely benign Holoprosencephaly 4 2025-01-02 criteria provided, single submitter clinical testing
Mendelics RCV002247258 SCV002516700 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000007396 SCV005652006 likely benign Holoprosencephaly 4 2024-04-19 criteria provided, single submitter clinical testing
OMIM RCV000007396 SCV000027595 pathogenic Holoprosencephaly 4 2000-06-01 no assertion criteria provided literature only

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