ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)

dbSNP: rs1590998813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786935 SCV000925839 pathogenic Cone-rod synaptic disorder, congenital nonprogressive 2019-01-25 no assertion criteria provided clinical testing

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