ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr)

gnomAD frequency: 0.00021  dbSNP: rs200841925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066672 SCV001231688 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329756 SCV001521281 uncertain significance Microcephaly and chorioretinopathy 1 2020-01-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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