ClinVar Miner

Submissions for variant GRCh37/hg19 14q11.2(chr14:21887312-21918282)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ RCV001252677 SCV001250916 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2020-04-08 no assertion criteria provided clinical testing PMID: 30670789; PMID: 31721432; PMID: 26921529; PMID: 31980904

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