ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2283G>C (p.Pro761=)

gnomAD frequency: 0.00009  dbSNP: rs774128799
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175744 SCV000227284 uncertain significance not provided 2015-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478568 SCV002790950 uncertain significance Townes-Brocks syndrome 1 2022-01-12 criteria provided, single submitter clinical testing

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