ClinVar Miner

Submissions for variant NM_032217.5(ANKRD17):c.3751_3754del (p.Asn1251fs)

dbSNP: rs1726649573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001780201 SCV001429371 pathogenic Chopra-Amiel-Gordon syndrome 2023-02-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001780201 SCV002026442 pathogenic Chopra-Amiel-Gordon syndrome 2021-10-07 criteria provided, single submitter clinical testing

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