ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.237-6T>C

gnomAD frequency: 0.00008  dbSNP: rs370219865
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868259 SCV001009568 likely benign Spongy degeneration of central nervous system 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868259 SCV001452941 uncertain significance Spongy degeneration of central nervous system 2018-04-30 no assertion criteria provided clinical testing

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