ClinVar Miner

Submissions for variant NM_001145030.2(TOPAZ1):c.4452A>C (p.Pro1484=)

gnomAD frequency: 0.00003  dbSNP: rs554511068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978433 SCV001126362 benign not provided 2018-11-28 criteria provided, single submitter clinical testing

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