ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.78C>T (p.Thr26=)

gnomAD frequency: 0.00011  dbSNP: rs145616193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001271639 SCV001632674 likely benign Spongy degeneration of central nervous system 2021-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271639 SCV001452940 uncertain significance Spongy degeneration of central nervous system 2018-05-13 no assertion criteria provided clinical testing

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