ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.219C>T (p.Pro73=)

gnomAD frequency: 0.00105  dbSNP: rs186163123
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304572 SCV000338585 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000055680 SCV001021642 benign Holoprosencephaly 2 2023-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000878695 SCV001145641 benign not provided 2019-06-06 criteria provided, single submitter clinical testing
GeneReviews RCV000055680 SCV000086595 non-pathogenic Holoprosencephaly 2 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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