ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.1638C>T (p.Asn546=)

gnomAD frequency: 0.00123  dbSNP: rs149455769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596676 SCV000705838 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Invitae RCV000596676 SCV001026360 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000596676 SCV001838781 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing

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