ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.869G>A (p.Gly290Asp) (rs104894047)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177010 SCV000228814 likely benign not specified 2014-10-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713269 SCV000843858 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000009437 SCV001005794 benign Holoprosencephaly 3 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000009437 SCV000029655 pathogenic Holoprosencephaly 3 2010-05-01 no assertion criteria provided literature only
OMIM RCV000023032 SCV000044323 pathogenic SCHIZENCEPHALY 2010-05-01 no assertion criteria provided literature only
GeneReviews RCV000009437 SCV000087239 pathologic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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