ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys)

gnomAD frequency: 0.00001  dbSNP: rs758150597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263357 SCV001441399 uncertain significance Autism; Intellectual disability 2020-03-02 criteria provided, single submitter clinical testing

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