ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)

gnomAD frequency: 0.00001  dbSNP: rs80356463
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009131 SCV000029348 pathogenic Branchiootorenal syndrome 2 2007-04-01 no assertion criteria provided literature only
GeneReviews RCV000009131 SCV000041677 not provided Branchiootorenal syndrome 2 no assertion provided literature only

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