ClinVar Miner

Submissions for variant NM_005702.4(ERAL1):c.945C>T (p.Asp315=)

gnomAD frequency: 0.81174  dbSNP: rs2242345
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
Genome-Nilou Lab RCV001661288 SCV001876081 benign Perrault syndrome 6 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001694152 SCV001910297 benign not provided 2021-05-04 criteria provided, single submitter clinical testing

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