ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3210G>T (p.Leu1070=)

dbSNP: rs539631209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912839 SCV001057962 likely benign Baller-Gerold syndrome 2024-04-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705910 SCV005222945 likely benign not provided criteria provided, single submitter not provided

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