ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5211C>T (p.Phe1737=)

dbSNP: rs373155396
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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 RCV000924379 SCV001069892 likely benign KBG syndrome 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413727 SCV004143466 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7

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