ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro)

gnomAD frequency: 0.00002  dbSNP: rs1057523555
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
GeneDx RCV001698303 SCV000532508 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001698303 SCV003812265 uncertain significance not provided 2020-08-27 criteria provided, single submitter clinical testing

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