ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe)

dbSNP: rs886039881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000256374 SCV000323153 likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia no assertion criteria provided clinical testing

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