ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.151G>C (p.Asp51His)

dbSNP: rs864309703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lilac Insights Private Limited RCV000515508 SCV000611551 uncertain significance Cataract 1 multiple types 2016-09-21 criteria provided, single submitter clinical testing This variant has been previously detected in a heterozygous state in the father who exhibited features of micropthalmia and unilateral cataract and in the older child harbouring Bilateral Microphthalmia and cataract with complete blindness. This variant has been labelled as 'variant of unknown significance with probable damaging effect' (VUSD).
Lilac Insights Private Limited RCV000587821 SCV000693757 uncertain significance Microphthalmia and cataract 2016-09-21 no assertion criteria provided clinical testing

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