ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1147-1G>T

dbSNP: rs2088620169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV001261543 SCV001244663 pathogenic Tay-Sachs disease 2019-07-05 criteria provided, single submitter research

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