ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) (rs1467732394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670353 SCV000795195 uncertain significance Tay-Sachs disease 2017-10-31 criteria provided, single submitter clinical testing
Natera Inc RCV000670353 SCV001190679 likely pathogenic Tay-Sachs disease 2019-05-20 no assertion criteria provided clinical testing

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