ClinVar Miner

Submissions for variant GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000611072 SCV000224002 pathogenic Cardiomyopathy; Left ventricular noncompaction; Infantile muscular hypotonia 2015-06-17 criteria provided, single submitter research This deletion was reported once (from another laboratory) in trans with a MIPEP missense variant (c.1534C>G; p.His512Asp) in a deceased 19-day-old male with seizures, severe biventricular hypertrophic cardiomyopathy, dysmorphic features, congenital hyperinsulinemia, lactic acidosis, microcolon, rhombencephalosynapsis, small VSD, similarly affected sib (not tested)
ISCA site 1 RCV000511873 SCV000585788 likely benign See cases 2014-12-16 no assertion criteria provided clinical testing

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