ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.649C>G (p.His217Asp)

gnomAD frequency: 0.00024  dbSNP: rs199761158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000186672 SCV000230832 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000230022 SCV000240238 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Invitae RCV001080646 SCV000282687 benign Adenylosuccinate lyase deficiency 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000230022 SCV001142963 benign not provided 2018-12-07 criteria provided, single submitter clinical testing

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